research Prediction of gain-of-function and loss-of-function mutations using Combined Annotation Dependent Depletion (CADD)
C-scores can help predict gain-of-function and loss-of-function mutations.
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research The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71
Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
research The human type I keratin gene family: Characterization of new hair follicle specific members and evaluation of the chromosome 17q21.2 gene domain
The study identified and characterized new keratin genes linked to hair follicles and epithelial tissues.
research Clinical Case Notes. Retinoblastoma, microphthalmia and the chromosome 13q deletion syndrome
The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
research Recent advances in the molecular mechanisms determining tissue sensitivity to glucocorticoids: novel mutations, circadian rhythm and ligand-induced repression of the human glucocorticoid receptor
New findings explain how genetic changes, body clocks, and certain molecules affect tissue response to stress hormones.
research An N-Ethyl-N-Nitrosourea Induced Corticotropin-Releasing Hormone Promoter Mutation Provides a Mouse Model for Endogenous Glucocorticoid Excess
Researchers created a mouse model for Cushing's syndrome to study glucocorticoid excess and potential treatments.
research The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family-based association approach
Hairless gene not strongly linked to baldness.
research Deciphering the function of canonical Wnt signals in development and disease: conditional loss- and gain-of-function mutations of β-catenin in mice
Wnt signaling is vital for cell growth, development, and cancer research.
research The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat )
The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.
research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
research The Molecular Basis of Androgen Insensitivity
Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
research Congenital Zinc Deficiency from Mutations of theSLC39A4Gene as the Genetic Background of Acrodermatitis Enteropathica
A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
research Chromosomal localization of acidic and basic keratin genes of the domestic dog
Acidic keratin genes are on CFA9 and basic keratin genes are on CFA27 in dogs.
research Clinical Impact of Molecular Diagnostics in Endocrinology
Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
research Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
research APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
research Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
Mutations in the SNRPE gene cause hereditary hair loss.
research Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament
Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
research Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats
Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
research Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
research Histopathological Analysis on keratin2-6 g Expression in Hair Mutant Mouse Hague
Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
research Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype
New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
research Characterization of X-Linked SNP genotypic variation in globally distributed human populations
The research concluded that selection significantly shaped the genetic variation of the X chromosome, with certain regions affected by past selective events.
research A Humanized Mouse Model of Hereditary 1,25-Dihydroxyvitamin D–Resistant Rickets Without Alopecia
Researchers created a mouse model of a type of rickets that does not cause hair loss.
research Mutations in the Serum/Glucocorticoid Regulated Kinase 3 (Sgk3) Are Responsible for the Mouse Fuzzy (fz) Hair Phenotype
Mutations in the Sgk3 gene cause fuzzy hair in mice.
research Human ClinicalPhenotype Associated with FOXN1 Mutations
FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
research Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations
LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.
research The role of vitamin D receptor mutations in the development of alopecia
Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.